Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130382115A>C , CM000669.2:g.130382115A>C | GRCh38 |
| NC_000007.13:g.130021956A>C , CM000669.1:g.130021956A>C | GRCh37 |
| NC_000007.12:g.129809192A>C | NCBI36 |
| NG_042276.1:g.6745A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.389A>C MANE Select | NP_001859.1:p.Asp130Ala |
| ENST00000011292.8:c.389A>C MANE Select | ENSP00000011292.3:p.Asp130Ala |
| NM_001868.3:c.389A>C | NP_001859.1:p.Asp130Ala |
| ENST00000011292.7:c.389A>C | ENSP00000011292.3:p.Asp130Ala |
| ENST00000476062.5:c.125A>C | ENSP00000419408.1:p.Asp42Ala |
| ENST00000481342.5:c.125A>C | ENSP00000420218.1:p.Asp42Ala |
| ENST00000484324.1:c.125A>C | ENSP00000419497.1:p.Asp42Ala |
| ENST00000491460.5:n.351A>C | |
| ENST00000604896.5:c.141+969A>C | ENSP00000475021.1:n.141+969A>C |